GBA1LP glucosylceramidase beta 1 like, pseudogene [Homo sapiens (human)] - Gene

Summary

Official Symbol: GBA1LPprovided by HGNC
Official Full Name: glucosylceramidase beta 1 like, pseudogeneprovided by HGNC
Primary source: HGNC:HGNC:4178
See related: Ensembl:ENSG00000291137 AllianceGenome:HGNC:4178
Gene type: pseudo
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: GC; GBA; GBAP; GLUC; GBAP1; Beta-GC
Expression: Ubiquitous expression in brain (RPKM 11.5), thyroid (RPKM 10.3) and 25 other tissues See more
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Genomic context

Location:: 1q22

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (155213825..155227534, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (154352388..154366091, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (155183616..155197325, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Parkinson's Disease: Glucocerebrosidase 1 Mutation Severity Is Associated with CSF Alpha-Synuclein Profiles.
Title: Parkinson's Disease: Glucocerebrosidase 1 Mutation Severity Is Associated with CSF Alpha-Synuclein Profiles.
Pseudogene GBAP1 contributes to the development and progression of gastric cancer by sequestering the miR-212-3p from binding to GBA.
Title: A genetic variation in the CpG island of pseudogene GBAP1 promoter is associated with gastric cancer susceptibility.
Using skin-derived induced pluripotent stem cells of PD patients with GBA mutations and controls, we observed a significant GBA up-regulation during dopaminergic differentiation, paralleled by down-regulation of miR-22-3p. Our results describe the first microRNA controlling GBA and suggest that the GBAP1 non-coding RNA functions as a GBA ceRNA
Title: The GBAP1 pseudogene acts as a ceRNA for the glucocerebrosidase gene GBA by sponging miR-22-3p.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

MARC_6921-6922:996689842:1 (e-PCR)
- UniSTS:269690

RH69089 (e-PCR)
- UniSTS:50344

G06424 (e-PCR)
- UniSTS:7912

Other Names

Acid beta-glucosidase
Alglucerase
Beta-glucocerebrosidase
D-glucosyl-N-acylsphingosine glucohydrolase
Imiglucerase
glucosidase, beta, acid pseudogene 1
glucosidase, beta; acid, pseudogene
glucosylceramidase beta pseudogene 1
glucosylceramidase-like protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.